Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.F54C
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KCNE1

NM_000219.6:p.F54C

Associated Papers

High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.

Muhammad A et al.

Genome Medicine, 2024

38816749 (PubMed )
Supplement: 13073_2024_1340_MOESM3_ESM.xlsx › SpliceAI

Allosteric mechanism for KCNE1 modulation of KCNQ1 potassium channel activation.

Kuenze G et al.

Elife, 2020

33095155 (PubMed )
Supplement: elife-57680-fig7-data1.xlsx › Panel_C_-_Q1_activation_Vhalf

Probing Structural Dynamics and Topology of the KCNE1 Membrane Protein in Lipid Bilayers via Site-Directed Spin Labeling and Electron Paramagnetic Resonance Spectroscopy.

Sahu ID et al.

Biochemistry, 2015

Probing the structural basis for differential KCNQ1 modulation by KCNE1 and KCNE2.

Wang Y et al.

The Journal of General Physiology, 2012

Reconstitution of KCNE1 into lipid bilayers: comparing the structural, dynamic, and activity differences in micelle and vesicle environments.

Coey AT et al.

Biochemistry, 2011

KCNQ1 subdomains involved in KCNE modulation revealed by an invertebrate KCNQ1 orthologue.

Nakajo K et al.

The Journal of General Physiology, 2011

KCNE regulation of KvLQT1 channels: structure-function correlates.

Melman YF et al.

Trends in Cardiovascular Medicine, 2002

Potassium channel subunits encoded by the KCNE gene family: physiology and pathophysiology of the MinK-related peptides (MiRPs).

Abbott GW et al.

Molecular Interventions, 2001

TEA(+)-sensitive KCNQ1 constructs reveal pore-independent access to KCNE1 in assembled I(Ks) channels.

Kurokawa J et al.

The Journal of General Physiology, 2001

MinK endows the I(Ks) potassium channel pore with sensitivity to internal tetraethylammonium.

Sesti F et al.

Biophysical Journal, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."